MYBPC1 Gene Lethal Congenital Contracture Syndrome Type 4 NGS Genetic DNA Test
Introduction to the Test
The MYBPC1 Gene Lethal Congenital Contracture Syndrome Type 4 NGS Genetic DNA Test is a cutting-edge diagnostic tool designed to detect mutations in the MYBPC1 gene. This test is vital for understanding the genetic basis of lethal congenital contracture syndrome (LCCS) type 4, a serious condition characterized by severe muscle and joint abnormalities. Early detection through this genetic test can provide crucial insights for effective management and intervention.
What the Test Measures
This test specifically measures the presence of mutations in the MYBPC1 gene, which are linked to LCCS type 4. By analyzing the genetic material obtained from a blood sample or extracted DNA, healthcare providers can determine the likelihood of developing this condition.
Who Should Consider This Test
Individuals with a family history of congenital contracture syndromes, particularly those exhibiting symptoms such as joint contractures, muscle weakness, or developmental delays, should consider this test. Additionally, parents of affected children may benefit from understanding their genetic risks.
Benefits of Taking the Test
- Early diagnosis and intervention can significantly improve patient outcomes.
- Informs family planning decisions for at-risk couples.
- Provides clarity on the genetic basis of symptoms, aiding in targeted management strategies.
- Facilitates access to genetic counseling and support services.
Understanding Your Results
Results from the MYBPC1 Gene Lethal Congenital Contracture Syndrome Type 4 NGS Genetic DNA Test will indicate whether mutations are present. A genetic counselor will help interpret these results and discuss potential implications for health and family planning.
Test Pricing
| Test Name | Discount Price (NGN) | Regular Price (NGN) |
|---|---|---|
| MYBPC1 Gene Lethal Congenital Contracture Syndrome Type 4 NGS Genetic DNA Test | 400,000 | 560,000 |
Booking the Test
To book the MYBPC1 Gene Lethal Congenital Contracture Syndrome Type 4 NGS Genetic DNA Test, please contact us at +2348077798758 or visit our website for more information. Our team is ready to assist you in understanding your genetic health.
Turnaround Time: 3 to 4 Weeks
Sample Type: Blood or Extracted DNA or One drop Blood on FTA Card
Pre-Test Instructions: A genetic counseling session is required to draw a pedigree chart of family members affected by the MYBPC1 gene.
Specialty: Pediatrics
Department: Genetics
Method: NGS Technology
Disease Type: Dysmorphology
